Two Rare Cases of Long Surviving Riboflavin Transporter Deficiency with Co-Existing Adenosine Monophosphate Deaminase (AMP) Deficiency

(1) Background: Riboflavin transporter deficiency (RTD), formerly known as Brown–Vialetto–Van Laere syndrome, is a rare condition that causes a progressive neurological syndrome in early life with features of auditory and optic neuropathy, weakness of bulbar muscles and the diaphragm and sensorimoto...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Lin, Thyagarajan, Dominic
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9775375/
https://www.ncbi.nlm.nih.gov/pubmed/36552065
http://dx.doi.org/10.3390/brainsci12121605

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9775375/
https://www.ncbi.nlm.nih.gov/pubmed/36552065
http://dx.doi.org/10.3390/brainsci12121605

Ejemplares similares